UPF1

Summary

UPF1 (UPF1 RNA helicase and ATPase, HGNC:9962) is a protein-coding gene on chromosome 19p13.11, encoding Regulator of nonsense transcripts 1 (Q92900). RNA-dependent helicase required for nonsense-mediated decay (NMD) of aberrant mRNAs containing premature stop codons and modulates the expression level of normal mRNAs. It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5976 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 191 total — 5 pathogenic, 2 likely-pathogenic
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
• MANE Select transcript: NM_002911

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9962
Approved symbol	UPF1
Name	UPF1 RNA helicase and ATPase
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	HUPF1, KIAA0221, NORF1, pNORF1, smg-2
Ensembl gene	ENSG00000005007
Ensembl biotype	protein_coding
OMIM	601430
Entrez	5976

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 10 protein_coding, 7 protein_coding_CDS_not_defined, 5 retained_intron, 2 nonsense_mediated_decay

ENST00000262803, ENST00000594243, ENST00000594504, ENST00000596842, ENST00000598209, ENST00000598471, ENST00000599848, ENST00000600012, ENST00000600310, ENST00000600689, ENST00000600868, ENST00000601689, ENST00000601981, ENST00000704676, ENST00000704677, ENST00000704678, ENST00000704679, ENST00000920693, ENST00000920694, ENST00000920695, ENST00000948398, ENST00000948399, ENST00000948400, ENST00000948401

RefSeq mRNA: 2 — MANE Select: NM_002911 NM_001297549, NM_002911

CCDS: CCDS12386, CCDS74315

Canonical transcript exons

ENST00000262803 — 24 exons

Exon	Start	End
ENSE00001622662	18856186	18856300
ENSE00001764056	18854879	18855038
ENSE00001787647	18855925	18856089
ENSE00003656614	18854601	18854709
ENSE00003992120	18863438	18863612
ENSE00003992122	18850075	18850242
ENSE00003992124	18853252	18853350
ENSE00003992126	18857320	18857533
ENSE00003992127	18860826	18860982
ENSE00003992130	18862010	18862152
ENSE00003992134	18866521	18868230
ENSE00003992135	18831959	18832440
ENSE00003992139	18855124	18855242
ENSE00003992140	18847744	18847833
ENSE00003992142	18860321	18860438
ENSE00003992144	18864170	18864251
ENSE00003992146	18865289	18865450
ENSE00003992151	18866044	18866166
ENSE00003992152	18850688	18850868
ENSE00003992156	18865561	18865778
ENSE00003992158	18852135	18852296
ENSE00003992159	18856877	18857020
ENSE00003992161	18845980	18846119
ENSE00003992162	18852987	18853071

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 94.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.6167 / max 446.2443, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174740	31.0095	1821
174739	19.5590	1809
174741	0.0426	13
174742	0.0056	2

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	94.15	gold quality
cerebellar hemisphere	UBERON:0002245	93.86	gold quality
cerebellar cortex	UBERON:0002129	93.83	gold quality
mucosa of transverse colon	UBERON:0004991	93.72	gold quality
endometrium epithelium	UBERON:0004811	93.25	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.16	gold quality
granulocyte	CL:0000094	93.14	gold quality
lower esophagus mucosa	UBERON:0035834	92.98	gold quality
cerebellum	UBERON:0002037	92.93	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.41	gold quality
lower esophagus	UBERON:0013473	92.40	gold quality
skin of leg	UBERON:0001511	92.25	gold quality
adenohypophysis	UBERON:0002196	92.22	gold quality
right uterine tube	UBERON:0001302	92.03	gold quality
right testis	UBERON:0004534	92.01	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.00	gold quality
right lobe of thyroid gland	UBERON:0001119	91.86	gold quality
stromal cell of endometrium	CL:0002255	91.79	gold quality
pituitary gland	UBERON:0000007	91.77	gold quality
minor salivary gland	UBERON:0001830	91.77	gold quality
paraflocculus	UBERON:0005351	91.74	gold quality
left testis	UBERON:0004533	91.73	gold quality
skin of abdomen	UBERON:0001416	91.72	gold quality
esophagus	UBERON:0001043	91.71	gold quality
right lobe of liver	UBERON:0001114	91.69	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.65	gold quality
left lobe of thyroid gland	UBERON:0001120	91.64	gold quality
transverse colon	UBERON:0001157	91.53	gold quality
body of stomach	UBERON:0001161	91.52	gold quality
gall bladder	UBERON:0002110	91.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.51

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
NCBP1	Unknown
SLBP	Unknown

Upstream regulators (CollecTRI, top): SMG6, UPF2, ZNF268

miRNA regulators (miRDB)

61 targeting UPF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-1912-3P	99.32	67.40	936

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• inhibition of rent1/hUpf1 expression abrogated both nonsense-mediated mRNA decay and nonsense-mediated altered splicing of nonsense T cell receptor beta transcripts; rent1/hUpf1 enters the nucleus where it may influence early events in mRNA biogenesis (PMID:12228722)
• Dcp1a and Dcp2 interact with the nonsense-mediated decay factor Upf1 (PMID:12417715)
• Data show that phosphorylated hUPF1, the human ortholog of UPF1/SMG-2, forms a complex with human orthologs of the Caenorhabditis elegans proteins SMG-5 and SMG-7. (PMID:14636577)
• regulated degradation of histone mRNAs requires Upf1, a key regulator of the nonsense-mediated decay pathway, and ataxia telangiectasia and Rad3 related, a key regulator of the DNA damage checkpoint pathway activated during replication stress (PMID:16086026)
• During nonsense-mediated mRNA decay, CBP80 interacts with Upf1 and promotes the interaction of Upf1 with Upf2 but not with Stau1. (PMID:16186820)
• Thus, the SMG-1-mediated phosphorylation of Upf1 occurs on the association of SURF with EJC, which provides the link between the EJC and recognition of PTCs and triggers NMD (PMID:16452507)
• REVIEW. the direct roles of UPF1 and other NMD-factors in DNA replication and genome maintenance pathways and suggest functional connections between RNA and DNA metabolism (PMID:16861888)
• 3 A resolution crystal structure of the highly conserved cysteine-histidine-rich domain (PMID:16931876)
• analysis of how ATP binding destabilizes ssRNA binding to Upf1p (PMID:17159905)
• The Upf complex communicates with the exon-junction complex and triggers nonsense-mediated decay in the cytoplasm. (PMID:17803942)
• UPF2 and UPF3b cooperatively stimulate both ATPase and RNA helicase activities of UPF1. (PMID:18066079)
• suggests a regulatory pathway by a combination of ADAR1 A-to-I editing enzyme and RNA degradation presumably with the aid of hUpf1 (PMID:18362360)
• overexpression of UPF1 led to a dramatic up-regulation of HIV-1 expression at the RNA and protein synthesis levels (PMID:18369187)
• Study provides evidence that phospho-Upf1 functions after nonsense codon recognition during steps that involve the translation initiation factor eIF3 and mRNA decay factors (PMID:18423202)
• The nonsense-mediated-decay mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers. (PMID:18427545)
• Results demonstrate that the mammalian gene ZNF268 is regulated by hUpf1 via its promoter. (PMID:18774934)
• The authors propose that the bipartite mode of UPF2 binding to UPF1 brings the ribosome and the exon junction complex in close proximity by forming a tight complex after an initial weak encounter with either element. (PMID:19556969)
• hUPF1 may participate in RNA silencing by facilitating the binding of the RNA-induced silencing complex to the target and by accelerating the decay of the mRNA. (PMID:19704008)
• UPF1 binds PTC-containing mRNA more efficiently than the corresponding PTC-free mRNA in a way that is promoted by the UPF1-CBP80 interaction. (PMID:20691628)
• A conserved nonsense-mediated mRNA decay event within HNRNPA2B1 that appears to mediate autoregulation of HNRNPA2B1 expression levels, was identified upon UPF1 knockdown . (PMID:20946641)
• Study uncovers a 2-step mechanism for Upf1-dependent degradation of mRNAs with long 3’UTRs and proposes a model for 3’UTR length surveillance in which equilibrium binding of Upf1 to mRNAs precedes a kinetically distinct commitment to RNA decay. (PMID:21029861)
• demonstrate that the ATPase activity of the RNA helicase Upf1 allows disassembly of mRNPs undergoing nonsense-mediated mRNA decay (PMID:21145460)
• Data show that upon binding to Upf2, the regulatory CH domain of Upf1 undergoes a large conformational change, causing the catalytic helicase domain to bind RNA less extensively and triggering its helicase activity. (PMID:21419344)
• hUPF1 rescues the toxicity of FUS/TLS in yeast model, implicating a possible insufficiency in RNA processing or the RNA quality control machinery in the mechanism of FUS/TLS mediated toxicity. (PMID:21541368)
• Rescue of UPF1 by expression of exogenous UPF1 was found to suppress vascular smooth muscle cell proliferation. (PMID:21749700)
• UPF1 interacts with TPP1 and telomerase and sustains telomere leading-strand replication (PMID:21829167)
• Recruitment of Stau2 alone or in combination with Upf1 differentially affects the fate of mRNAs. (PMID:22087843)
• the functions of UPF1 in maintaining the stability of telomeres and of the genome (PMID:22156744)
• The heptameric assembly of the UPF complex is built around UPF2, a scaffold protein with a ring structure that closes around the CH domain of UPF1, keeping the helicase region in an accessible and unwinding-competent state. (PMID:22522823)
• HTLV-1 Tax binds to UPF1 and causes an increase in the amount of phospho-UPF1. These activities coincidewith an enhanced localization of UPF1 in the P-bodies, in which Tax was also partially detected (PMID:22553336)
• UPF1 is an important factor for the RNA quality control system and the regulation of physiological gene expression, and contributes to DNA replication, DNA repair, telomere metabolism, and stabilization of HIV-1 genomic RNA. (PMID:22622014)
• Data show that UPF1 also interacts with proteins associated with nuclear RNA degradation and transcription termination (PMID:22817733)
• Data indicate a specific impact of hUPF1 on the regulation of complex I genes. (PMID:22889941)
• The SQ domain of the human Upf1 helicase, directly interacts with the helicase domain to impede ATP hydrolysis and RNA unwinding. (PMID:23275559)
• nonsense-mediated mRNA decay involves UPF1 binding along a 3’ UTR whether the 3’ UTR contains an exon-junction complex. (PMID:23404710)
• UPF1 is a critical gene expression regulator of 5-lipoxygenase and other proteins in the monocytes. (PMID:23642263)
• Thus, whereas ectopic MOV10 restricts human immunodeficiency virus type 1 replication, the related UPF1 helicase functions as a cofactor at an early postentry step. (PMID:23785196)
• MARVELD1 substantially inhibits nonsense-mediated RNA decay by decreasing the pioneer round of translation but not steady-state translation, and is an important component of the molecular machinery containing UPF1 and Y14. MARVELD1 promotes the dissociation of SMG1 from UPF1, resulting in the repression of serine phosphorylation of UPF1, and subsequently blocks the recruitment of SMG5. (PMID:23826386)
• UPF1 binds RNA before translation and gets displaced from the coding regions by translating ribosomes. (PMID:23832275)
• FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis. (PMID:23881279)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	upf1	ENSDARG00000016302
mus_musculus	Upf1	ENSMUSG00000058301
rattus_norvegicus	Upf1	ENSRNOG00000020134
drosophila_melanogaster	Upf1	FBGN0030354
caenorhabditis_elegans	smg-2	WBGENE00004880

Paralogs (10): AQR (ENSG00000021776), MOV10L1 (ENSG00000073146), SETX (ENSG00000107290), ZNFX1 (ENSG00000124201), HELZ2 (ENSG00000130589), IGHMBP2 (ENSG00000132740), DNA2 (ENSG00000138346), MOV10 (ENSG00000155363), CT55 (ENSG00000169551), HELZ (ENSG00000198265)

Protein

Protein identifiers

Regulator of nonsense transcripts 1 — Q92900 (reviewed: Q92900)

Alternative names: ATP-dependent helicase RENT1, Nonsense mRNA reducing factor 1, Up-frameshift suppressor 1 homolog

All UniProt accessions (5): Q92900, A0A024R7L5, A0A994J4L7, A0A994J597, A0A994J773

UniProt curated annotations — full annotation on UniProt →

Function. RNA-dependent helicase required for nonsense-mediated decay (NMD) of aberrant mRNAs containing premature stop codons and modulates the expression level of normal mRNAs. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of NMD factors. UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC indicative for alternative NMD pathways. Plays a role in replication-dependent histone mRNA degradation at the end of phase S; the function is independent of UPF2. For the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. The ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD. Together with UPF2 and dependent on TDRD6, mediates the degradation of mRNA harboring long 3’UTR by inducing the NMD machinery. Also capable of unwinding double-stranded DNA and translocating on single-stranded DNA.

Subunit / interactions. Found in a post-splicing messenger ribonucleoprotein (mRNP) complex. Associates with the exon junction complex (EJC). Associates with the SGM1C complex; is phosphorylated by the complex kinase component SGM1. Part of a complex composed of SMG1, DHX34 and UPF1; within the complex DHX34 acts as a scaffolding protein to facilitate SMG1 phosphorylation of UPF1. Interacts with UPF2. Interacts with UPF3A and UPF3B. Interacts with EST1A. Interacts with SLBP. Interacts (when hyperphosphorylated) with PNRC2. Interacts with AGO1 and AGO2. Interacts with GSPT2. Interacts with isoform 1 and isoform 5 of ADAR/ADAR1. Interacts with SMG7. Interacts with ZC3H12A; this interaction occurs in a mRNA translationally active- and termination-dependent manner and is essential for ZC3H12A-mediated degradation of target mRNAs. Interacts with CPSF6. Interacts with MOV10; the interaction is direct and RNA-dependent. Interacts with SHFL; the interaction increases in the presence of RNA. Interacts with UPF2 and DDX4; interactions are mediated by TDRD6. Interacts with DHX34 and PABPC1/PABP1; the interactions are RNA-independent. Interacts with RBM46. (Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein Tax; this interaction inhibits the host nonsense-mediated mRNA decay (NMD).

Subcellular location. Cytoplasm. P-body. Nucleus. Perinuclear region.

Tissue specificity. Ubiquitous.

Post-translational modifications. Phosphorylated by SMG1; required for formation of mRNA surveillance complexes.

Domain organisation. The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase family.

Similarity. Belongs to the DNA2/NAM7 helicase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92900-1	1	yes
Q92900-2	2

RefSeq proteins (2): NP_001284478, NP_002902* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006935	Helicase/UvrB_N	Domain
IPR018999	UPF1_CH/ZBD	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR040812	UPF1_1B_dom	Domain
IPR041677	DNA2/NAM7_AAA_11	Domain
IPR041679	DNA2/NAM7-like_C	Domain
IPR045055	DNA2/NAM7-like	Family
IPR047187	SF1_C_Upf1	Domain

Pfam: PF04851, PF09416, PF13086, PF13087, PF18141

Enzyme classification (BRENDA):

• EC 3.6.4.13 — RNA helicase (BRENDA: 3 organisms, 3 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (162 total): strand 42, helix 34, mutagenesis site 23, binding site 17, turn 13, modified residue 9, region of interest 8, sequence conflict 6, compositionally biased region 4, short sequence motif 2, chain 1, domain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

12 structures.

PDB	Method	Resolution (Å)
2XZO	X-RAY DIFFRACTION	2.4
2GK6	X-RAY DIFFRACTION	2.4
2WJY	X-RAY DIFFRACTION	2.5
2GJK	X-RAY DIFFRACTION	2.6
8RXB	X-RAY DIFFRACTION	2.6
2XZP	X-RAY DIFFRACTION	2.72
2GK7	X-RAY DIFFRACTION	2.8
2WJV	X-RAY DIFFRACTION	2.85
2IYK	X-RAY DIFFRACTION	2.95
6Z3R	ELECTRON MICROSCOPY	2.97
6EJ5	X-RAY DIFFRACTION	3.34
9QWN	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92900-F1	73.58	0.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (17): 123; 126; 137; 140; 145; 155; 159; 165; 183; 186; 209; 213 …

Post-translational modifications (9): 10, 31, 565, 956, 1019, 1089, 1107, 1110, 1127

Mutagenesis-validated functional residues (23):

Position	Phenotype
126	abolishes ability to interact with upf2/rent2 and copurifies with greater amounts of smg1, smg8 and smg9. increases inte
181–184	abolishes interaction with upf2. decreases interaction with dhx34.
204–205	abolishes interaction with upf2. no effect on interaction with dhx34.
506–508	prevents dephosphorylation and targets the protein to the p-body.
506	decreases interaction with dhx34; when associated with e-508.
508	decreases interaction with dhx34; when associated with r-506.
509	inhibits histone mrna degradation, atpase activity and atp binding. no effect on interaction with dhx34.
610–611	impairs rna binding.
615	impairs rna binding.
647–648	loss of atpase activity and helicase activity.
647–648	loss of atpase activity and helicase activity. inhibits zc3h12a-mediated il6 mrna degradation.
676	impairs atpase activity, no effect on atp binding.
714	impairs atpase activity and atp binding.
843	inhibits histone mrna degradation.
843	abolishes nmd.
876	impairs atpase activity and atp binding.
1084	impairs association with upf2, smg1 and smg7 and impairs phosphorylation; when associated with a-1089, a-1107 and a-1127
1089	impairs association with upf2, smg1 and smg7 and impairs phosphorylation; when associated with a-1084, a-1107 and a-1127
1089	still phosphorylated but with less efficiency.
1107	impairs association with upf2, smg1 and smg7 and impairs phosphorylation; when associated with a-1084, a-1089 and a-1127
1107	impairs phosphorylation.
1108	impairs phosphorylation.
1127	impairs association with upf2, smg1 and smg7 and impairs phosphorylation; when associated with a-1084, a-1089 and a-1107

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-975956	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

MSigDB gene sets: 218 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELL_CYCLE_DNA_REPLICATION, GOBP_POSITIVE_REGULATION_OF_MRNA_PROCESSING, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_TELOMERE_ORGANIZATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_TRANSLATIONAL_TERMINATION, GOBP_TRANSLATION

GO Biological Process (18): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), nuclear-transcribed mRNA catabolic process (GO:0000956), DNA replication (GO:0006260), DNA repair (GO:0006281), mRNA export from nucleus (GO:0006406), regulation of translational termination (GO:0006449), telomere maintenance via semi-conservative replication (GO:0032201), regulation of telomere maintenance (GO:0032204), cell cycle phase transition (GO:0044770), random inactivation of X chromosome (GO:0060816), positive regulation of mRNA catabolic process (GO:0061014), 3’-UTR-mediated mRNA destabilization (GO:0061158), histone mRNA catabolic process (GO:0071044), cellular response to lipopolysaccharide (GO:0071222), cellular response to interleukin-1 (GO:0071347), positive regulation of mRNA cis splicing, via spliceosome (GO:1905746), regulation of gene expression (GO:0010468), positive regulation of mRNA metabolic process (GO:1903313)

GO Molecular Function (15): chromatin binding (GO:0003682), RNA binding (GO:0003723), RNA helicase activity (GO:0003724), helicase activity (GO:0004386), ATP binding (GO:0005524), zinc ion binding (GO:0008270), ATP hydrolysis activity (GO:0016887), double-stranded DNA helicase activity (GO:0036121), telomeric repeat DNA binding (GO:0042162), protein-containing complex binding (GO:0044877), nucleotide binding (GO:0000166), DNA binding (GO:0003677), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (11): chromosome, telomeric region (GO:0000781), chromatin (GO:0000785), P-body (GO:0000932), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), exon-exon junction complex (GO:0035145), supraspliceosomal complex (GO:0044530), perinuclear region of cytoplasm (GO:0048471), cytoplasmic ribonucleoprotein granule (GO:0036464)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Nonsense-Mediated Decay (NMD)	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
binding	3
cytoplasm	3
nuclear-transcribed mRNA catabolic process	2
mRNA catabolic process	2
DNA metabolic process	2
gene expression	2
telomere maintenance	2
cell cycle process	2
nucleic acid binding	2
ATP-dependent activity	2
DNA biosynthetic process	1
DNA damage response	1
RNA export from nucleus	1
mRNA transport	1
translational termination	1
regulation of translation	1
regulation of protein-containing complex disassembly	1
nuclear DNA replication	1
regulation of chromosome organization	1
regulation of DNA metabolic process	1
dosage compensation by inactivation of X chromosome	1
positive regulation of catabolic process	1
regulation of mRNA catabolic process	1
positive regulation of mRNA metabolic process	1
mRNA destabilization	1
histone mRNA metabolic process	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
response to interleukin-1	1
cellular response to cytokine stimulus	1
mRNA cis splicing, via spliceosome	1
positive regulation of mRNA splicing, via spliceosome	1
regulation of mRNA cis splicing, via spliceosome	1
regulation of macromolecule biosynthetic process	1
mRNA metabolic process	1
positive regulation of RNA metabolic process	1
regulation of mRNA metabolic process	1

Protein interactions and networks

STRING

3650 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UPF1	UPF2	Q9HAU5	999
UPF1	SMG5	Q9UPR3	999
UPF1	UPF3A	Q9H1J1	999
UPF1	SMG1	Q96Q15	999
UPF1	SMG7	Q92540	999
UPF1	SMG6	Q86US8	997
UPF1	UPF3B	Q9BZI7	995
UPF1	SMG9	Q9H0W8	992
UPF1	SMG8	Q8ND04	991
UPF1	ETF1	P46055	977
UPF1	HBS1L	Q9Y450	972
UPF1	GSPT1	P15170	959
UPF1	PNRC2	Q9NPJ4	953
UPF1	XRN1	Q8IZH2	950
UPF1	DCP1A	Q9NPI6	949

IntAct

433 interactions, top by confidence:

A	B	Type	Score
CASC3	EIF4A3	psi-mi:“MI:0915”(physical association)	0.980
UPF2	UPF1	psi-mi:“MI:0914”(association)	0.960
UPF2	UPF1	psi-mi:“MI:0915”(physical association)	0.960
UPF1	UPF3B	psi-mi:“MI:0914”(association)	0.890
UPF3B	UPF1	psi-mi:“MI:0915”(physical association)	0.890
UPF1	UPF3B	psi-mi:“MI:0915”(physical association)	0.890
GSPT2	PABPC1	psi-mi:“MI:0914”(association)	0.890
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
UPF1	DCP1A	psi-mi:“MI:0915”(physical association)	0.780
DCP1A	UPF1	psi-mi:“MI:0915”(physical association)	0.780
DCP1A	UPF1	psi-mi:“MI:0914”(association)	0.780
UPF1	DCP1A	psi-mi:“MI:0914”(association)	0.780
DCP1A	UPF1	psi-mi:“MI:0403”(colocalization)	0.780
UPF1	CASC3	psi-mi:“MI:0914”(association)	0.770
SMG1	UPF1	psi-mi:“MI:0914”(association)	0.760
NS	PIK3R2	psi-mi:“MI:0914”(association)	0.750
RBM8A	UPF1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710

BioGRID (853): UPF1 (Affinity Capture-Western), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), ABCF3 (Co-fractionation)

ESM2 similar proteins: A8WK63, A9X4T1, B0XDC4, B2RR83, B3MMA5, B6DMK2, B6SFA4, B8A4F4, F1RCY6, F4ILR7, F4IV45, O16102, O48534, O74465, O75417, O76512, P30771, P54789, P79051, Q09820, Q0DBS1, Q0R4F1, Q14BI7, Q1DKI1, Q1EA54, Q1LXK4, Q1LXK5, Q2U6C4, Q3MHU3, Q4WVE3, Q54I89, Q5ACX1, Q5R746, Q60560, Q6C2R8, Q6J5K9, Q753V5, Q8CGS6, Q92900, Q98TR3

Diamond homologs: A0A1P8ASY1, A2AKX3, D3ZG52, E1BMP7, E9QAM5, O94387, P30771, P38859, P38935, P51530, Q5ZKG3, Q6ZQJ5, Q7Z333, Q8QHA5, Q92355, Q92900, Q98TR3, Q9EPU0, Q9HEH1, Q9URU2, F6QXW0, Q09820, Q54I89, Q86AS0, B6SFA4, F1RCY6, K0E4D9, O76512, O94247, P39369, Q00416, Q0VGT4, Q86YA3, Q8GYD9, Q9BXT6, Q9FJR0, Q9VYS3, Q57568, P42694, Q6DFV5

SIGNOR signaling

11 interactions.

A	Effect	B	Mechanism
SMG1	up-regulates	UPF1	phosphorylation
MOV10	“up-regulates activity”	UPF1	binding
UPF1	“form complex”	Upf-EJC	binding
AKT2	“up-regulates activity”	UPF1	phosphorylation
AKT3	“up-regulates activity”	UPF1	phosphorylation
AKT1	“up-regulates activity”	UPF1	phosphorylation
ATR	“up-regulates activity”	UPF1	phosphorylation
UPF2	“up-regulates activity”	UPF1	binding
UPF3B	“up-regulates activity”	UPF1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 162 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transport of Mature Transcript to Cytoplasm	6	22.2×	2e-05
Nonsense-Mediated Decay (NMD)	9	20.4×	5e-08
mRNA 3’-end processing	10	19.1×	2e-08
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	20	18.9×	8e-18
Transport of the SLBP Dependant Mature mRNA	6	18.5×	5e-05
Transport of the SLBP independent Mature mRNA	5	15.8×	6e-04
M-decay: degradation of maternal mRNAs by maternally stored factors	5	15.8×	6e-04
RNA Polymerase II Transcription Termination	7	14.9×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	19	64.9×	4e-28
mRNA export from nucleus	13	28.1×	3e-13
positive regulation of viral genome replication	5	21.2×	7e-04
mRNA stabilization	5	13.4×	3e-03
positive regulation of translation	8	13.3×	5e-05
negative regulation of translation	7	10.0×	8e-04
mRNA transport	5	9.6×	8e-03
rRNA processing	7	7.2×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

191 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	124
Likely benign	14
Benign	23

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
3341108	NM_002911.4(UPF1):c.1984G>A (p.Asp662Asn)	Pathogenic
3341109	NM_002911.4(UPF1):c.949_951del (p.Asp317del)	Pathogenic
3381429	NM_002911.4(UPF1):c.1565C>T (p.Pro522Leu)	Pathogenic
4537885	NM_002911.4(UPF1):c.2804A>G (p.Tyr935Cys)	Pathogenic
4689802	NM_002911.4(UPF1):c.1774G>A (p.Glu592Lys)	Pathogenic
4827887	NM_002911.4(UPF1):c.2246A>G (p.Tyr749Cys)	Likely pathogenic
930204	NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg)	Likely pathogenic

SpliceAI

3812 predictions. Top by Δscore:

Variant	Effect	Δscore
19:18845978:AGGTT:A	acceptor_gain	1.0000
19:18845979:GGTT:G	acceptor_gain	1.0000
19:18845979:GGTTG:G	acceptor_gain	1.0000
19:18847738:TTTTA:T	acceptor_loss	1.0000
19:18847739:TTTA:T	acceptor_loss	1.0000
19:18847740:TTAG:T	acceptor_loss	1.0000
19:18847741:TAG:T	acceptor_loss	1.0000
19:18847742:A:AG	acceptor_gain	1.0000
19:18847742:AG:A	acceptor_loss	1.0000
19:18847743:G:GT	acceptor_gain	1.0000
19:18847743:GT:G	acceptor_gain	1.0000
19:18847743:GTT:G	acceptor_gain	1.0000
19:18847743:GTTA:G	acceptor_gain	1.0000
19:18847743:GTTAC:G	acceptor_gain	1.0000
19:18847831:C:T	donor_gain	1.0000
19:18847832:AG:A	donor_loss	1.0000
19:18847833:GG:G	donor_loss	1.0000
19:18847834:GTAG:G	donor_loss	1.0000
19:18850066:T:A	acceptor_gain	1.0000
19:18850067:G:A	acceptor_gain	1.0000
19:18850071:TCA:T	acceptor_loss	1.0000
19:18850073:A:AG	acceptor_gain	1.0000
19:18850073:AG:A	acceptor_loss	1.0000
19:18850074:G:GA	acceptor_gain	1.0000
19:18850074:GC:G	acceptor_gain	1.0000
19:18850074:GCC:G	acceptor_gain	1.0000
19:18850074:GCCA:G	acceptor_gain	1.0000
19:18850074:GCCAC:G	acceptor_gain	1.0000
19:18850239:GCAG:G	donor_gain	1.0000
19:18850241:AGGTG:A	donor_loss	1.0000

AlphaMissense

7342 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:18846113:C:A	A122D	1.000
19:18846115:T:A	C123S	1.000
19:18846115:T:C	C123R	1.000
19:18846116:G:A	C123Y	1.000
19:18846116:G:C	C123S	1.000
19:18846116:G:T	C123F	1.000
19:18846117:C:G	C123W	1.000
19:18847745:T:G	Y125D	1.000
19:18847748:T:A	C126S	1.000
19:18847748:T:C	C126R	1.000
19:18847749:G:A	C126Y	1.000
19:18847749:G:C	C126S	1.000
19:18847749:G:T	C126F	1.000
19:18847750:T:G	C126W	1.000
19:18847776:T:A	V135D	1.000
19:18847783:T:G	C137W	1.000
19:18847799:T:A	W143R	1.000
19:18847799:T:C	W143R	1.000
19:18847802:T:C	F144L	1.000
19:18847803:T:C	F144S	1.000
19:18847804:C:A	F144L	1.000
19:18847804:C:G	F144L	1.000
19:18847805:T:A	C145S	1.000
19:18847805:T:C	C145R	1.000
19:18847806:G:A	C145Y	1.000
19:18847806:G:C	C145S	1.000
19:18847806:G:T	C145F	1.000
19:18847807:C:G	C145W	1.000
19:18847810:C:A	N146K	1.000
19:18847810:C:G	N146K	1.000

dbSNP variants (sampled 300 via entrez): RS1000062904 (19:18868605 A>AG), RS1000085919 (19:18867968 C>T), RS1000114620 (19:18851918 G>A), RS1000182768 (19:18859622 T>C), RS1000382209 (19:18856524 A>G), RS1000395905 (19:18861874 C>T), RS1000399143 (19:18851700 T>C), RS1000426860 (19:18867829 C>T), RS1000475407 (19:18862349 C>CAG), RS1000517537 (19:18851346 TC>T,TCC), RS1000525437 (19:18835043 G>A), RS1000718367 (19:18846202 T>A), RS1000751083 (19:18841155 G>A), RS1000761907 (19:18851642 G>A,C), RS1000803558 (19:18840929 G>T)

Disease associations

OMIM: gene MIM:601430 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant

Mondo (4): attention deficit-hyperactivity disorder (MONDO:0007743), strabismus (MONDO:0003432), intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010222_2	Attention deficit hyperactivity disorder	3.000000e-06

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
D013285	Strabismus	C10.292.562.887; C11.590.810

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066487 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.62	Kd	24.29	nM	CHEMBL5653589
7.62	ED50	24.29	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149734: Binding affinity to human UPF1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0243	uM

CTD chemical–gene interactions

52 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects binding, decreases reaction, decreases expression, increases expression	4
bisphenol A	decreases expression, increases expression, affects methylation	3
bisphenol S	decreases methylation, increases expression	2
Tamoxifen	affects expression, affects cotreatment, decreases expression	2
Valproic Acid	affects expression, decreases methylation	2
Raloxifene Hydrochloride	affects expression, affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects expression, affects response to substance	1
pyrogallol 1,3-dimethyl ether	increases expression, affects cotreatment, affects localization	1
antibiotic G 418	affects localization	1
afimoxifene	increases expression	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	decreases expression	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
amlexanox	affects localization	1
jasplakinolide	affects localization, affects binding, decreases reaction	1
K 7174	decreases expression	1
torcetrapib	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Antineoplastic Agents, Immunological	decreases response to substance, increases expression	1
Air Pollutants	increases abundance, affects expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652776	Binding	Binding affinity to human UPF1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

502 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00152750	PHASE4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00181571	PHASE4	COMPLETED	A Double-Blind Comparison of Concerta and Placebo in Adults With Attention Deficit Hyperactivity Disorder
NCT00181675	PHASE4	COMPLETED	A Double-Blind Comparison of Galantamine HBr and Placebo in Adults With Attention Deficit Hyperactivity Disorder
NCT00181714	PHASE4	COMPLETED	Prevention of Cigarette Smoking in Attention Deficit Hyperactivity Disorder (ADHD) Youth With Concerta
NCT00181948	PHASE4	COMPLETED	Strattera Treatment in Children With ADHD Who Have Poor Response to Stimulant Therapy
NCT00181987	PHASE4	COMPLETED	Concerta in the Treatment of ADHD in Youth and Adults With Bipolar Disorder
NCT00190736	PHASE4	COMPLETED	Efficacy and Safety of Once-Daily Atomoxetine Hydrochloride in Adults With ADHD Over an Extended Period of Time (6 Months)
NCT00190775	PHASE4	COMPLETED	A Randomized, Double-Blind Comparison of Placebo and Atomoxetine Hydrochloride Given Once a Day in Adults With Attention-Deficit/Hyperactivity Disorder (ADHD)
NCT00190879	PHASE4	COMPLETED	Placebo-Controlled Study of Atomoxetine Hydrochloride in the Treatment of Adults With ADHD and Comorbid Social Anxiety Disorder
NCT00190957	PHASE4	COMPLETED	Atomoxetine Treatment of Adults With ADHD and Comorbid Alcohol Abuse
NCT00191035	PHASE4	COMPLETED	Maintenance of Benefit With Atomoxetine Hydrochloride in Adolescents With ADHD
NCT00191048	PHASE4	COMPLETED	Treatment With Atomoxetine Hydrochloride in Children and Adolescents With ADHD
NCT00191633	PHASE4	COMPLETED	Study of Atomoxetine in Children With ADHD to Assess Symptomatic and Functional Outcomes
NCT00191906	PHASE4	COMPLETED	Comparison of Atomoxetine and Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) and/or Reading Disorder (RD)
NCT00216918	PHASE4	COMPLETED	Neuropsychological Functioning in Children With Attention-Deficit/Hyperactivity Disorder.
NCT00221962	PHASE4	COMPLETED	Study of Aripiprazole (Abilify) in Children With ADHD (Attention Deficit Hyperactivity Disorder)
NCT00223561	PHASE4	COMPLETED	Methylphenidate and Driving Ability in Adult Patients With Attention-Deficit Hyperactivity Disorder
NCT00299234	PHASE4	TERMINATED	Atomoxetine for Children With Acquired Attentional Disorders Following Completion of Chemotherapy for ALL
NCT00302406	PHASE4	COMPLETED	Naturalistic Substitution of Concerta in Adult Subject With ADHD Receiving Immediate Release Methylphenidate
NCT00305370	PHASE4	COMPLETED	Aripiprazole Associated With Methylphenidate in Children and Adolescents With Bipolar Disorder and ADHD
NCT00381758	PHASE4	COMPLETED	The COMACS Study: A Comparison of Methylphenidates in an Analog Classroom Setting
NCT00406354	PHASE4	COMPLETED	Comparison of Atomoxetine Versus Placebo in Children and Adolescents With ADHD and Comorbid ODD in Germany
NCT00434213	PHASE4	COMPLETED	Characterization of Dermal Reactions in Pediatric Patients With ADHD Using DAYTRANA
NCT00468143	PHASE4	COMPLETED	A Within-Subject Cross-Over Comparison Between Immediate Release and Extended Release Adderall
NCT00471354	PHASE4	COMPLETED	A Study for Patients With Attention-Deficit/Hyperactivity Disorder Treated With Atomoxetine
NCT00483106	PHASE4	COMPLETED	Clinical and Pharmacogenetic Study of Attention Deficit With Hyperactivity Disorder (ADHD)
NCT00485849	PHASE4	COMPLETED	A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD
NCT00485875	PHASE4	COMPLETED	Safety and Efficacy of Switching From a Stimulant Medication to Atomoxetine in Children and Adolescents With ADHD
NCT00486122	PHASE4	COMPLETED	Evaluation of Continuous Symptom Treatment of ADHD
NCT00500071	PHASE4	COMPLETED	Dose-Optimization Study Evaluating the Efficacy, Safety and Tolerability of Vyvanse (Lisdexamfetamine Dimesylate) in Children Aged 6-12 Diagnosed With ADHD
NCT00506727	PHASE4	COMPLETED	Analog Classroom Study Comparison of ADDERALL XR With STRATTERA in Children Aged 6-12 With ADHD
NCT00510276	PHASE4	COMPLETED	Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD) With Atomoxetine in Young Adults and Its Effects on Functional Outcomes
NCT00517504	PHASE4	COMPLETED	Methylphenidate Study in Young Children With Developmental Disorders
NCT00517647	PHASE4	COMPLETED	Atomoxetine Pilot Study in Preschool Children With ADHD
NCT00518232	PHASE4	COMPLETED	A Study to Determine Effective and Tolerable Titration Scheme for OROS-Methylphenidate in Children With Attention-deficit Hyperactivity Disorder
NCT00530257	PHASE4	COMPLETED	Study of the Effects of Osmotic-Release Oral System (OROS) Methylphenidate (Concerta) on Attention and Memory
NCT00536419	PHASE4	UNKNOWN	Impact of Attention Deficit/Hyperactivity Disorder and Substance Use Disorder on Motorcycle Traffic Accidents
NCT00546910	PHASE4	COMPLETED	Comparison of Atomoxetine Versus Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD)